A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675478



Internal ID9941583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67172612..67173698hg38UCSC Ensembl
chr8:68084847..68085933hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5467677, essv6429573, essv6554865, essv5873792, essv6003255, essv5651519
SamplesNA19920, NA19381, NA19382, NA19395, NA19440, NA19472
Known GenesCSPP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675478
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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